Clinical expression of Menkes syndrome in females.
Three female patients with Menkes syndrome are described. Clinically, they have typical Menkes syndrome. Biochemically, they have significantly increased 64Cu-uptake in cultured fibroblasts. The chromosomal analysis was normal for two of the patients and abnormal for one patient (45X/46XX mosaicism).
Gerdes
A M
AM
John F. Kennedy Institute, Glostrup, Denmark.
Tønnesen
T
T
Horn
N
N
Grisar
T
T
Marg
W
W
Müller
A
A
Reinsch
R
R
Barton
N W
NW
Guiraud
P
P
Joannard
A
A
D002675:Child, Preschool; D005260:Female; D005786:Gene Expression Regulation / Q000502:physiology*; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome